Protein regulation linked to intellectual disability

October 25, 2012, University of Adelaide

Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in the process.

While many intellectual disabilities are caused directly by a genetic mutation in the so-called "protein coding" part of our genes, the researchers found that in their case the answer laid outside the gene and in the regulation of proteins.

Protein regulation involves the switching on or off of a protein by specific genes. As a consequence in this case, either too much or too little of this protein can trigger the disability.

The team has studied a large (anonymous) Australian family of 100 people, who for generations have not known the source of their genetically inherited condition.

The disability – which results in a lower IQ, behavioral problems such as aggression, and , and is linked with developmental delays, epilepsy, schizophrenia and other problems – affects only the male family members and can be passed on by the female family members to their children.

taken from the family and laboratory testing involving mice have confirmed that the protein produced by the HCFC1 ( factor C1) gene is the cause of this disability.

"The causes of intellectual disability generally are highly variable and the in particular are numerous. The vast majority of intellectual disabilities are due to in proteins, so it was rather unexpected that we found this particular disability to be due to a regulatory mutation," says the leader of the study, Professor Jozef Gecz from the University of Adelaide's School of Pediatrics and Reproductive Health.

"We've been researching this specific disability for 10 years and it's taken us the last three years to convince ourselves that the protein regulation is the key," he says.

"For the family, this means we now have a genetic test that will determine whether or not a female member of the family is a carrier, which brings various benefits for the family.

"From a scientific point of view, this widens our viewpoint on the causes of these disabilities and tells us where we should also look for answers for those families and individuals without answers.

"This is just the tip of the iceberg in understanding the impact of altered gene regulation on – the gene regulatory landscape is much bigger than the protein coding landscape. We have already found, and I would expect to continue finding, a number of other intellectual disabilities linked with over the next 20 years or so."

Professor Gecz and his team have published their findings in this month's issue of the American Journal of Human Genetics.

Explore further: New form of intellectual disability discovered

Related Stories

New form of intellectual disability discovered

April 27, 2012
Researchers at the Centre for Addiction and Mental Health (CAMH) led a study discovering a gene for a new form of intellectual disability, as well as how it likely affects cognitive development by disrupting neuron functioning.

Study finds large proportion of intellectual disability is not genetically inherited

September 26, 2012
New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating ...

New gene for intellectual disability discovered

July 15, 2011
A gene linked to intellectual disability was found in a study involving the Centre for Addiction and Mental Health (CAMH) – a discovery that was greatly accelerated by international collaboration and new genetic sequencing ...

Intellectual disability is frequently caused by non-hereditary genetic problems

April 18, 2011
Mutations in a group of genes associated with brain activity frequently cause intellectual disability, according to a study led by scientists affiliated with the University of Montreal and the research centre at the Centre ...

Recommended for you

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

Can mice really mirror humans when it comes to cancer?

January 18, 2018
A new Michigan State University study is helping to answer a pressing question among scientists of just how close mice are to people when it comes to researching cancer.

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

The surprising role of gene architecture in cell fate decisions

January 16, 2018
Scientists read the code of life—the genome—as a sequence of letters, but now researchers have also started exploring its three-dimensional organisation. In a paper published in Nature Genetics, an interdisciplinary research ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.